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American Journal of Human Genetics|March 1, 1986
The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigreesP P Moll, C F Sing, R R Williams, et al.
American Journal of Human Genetics|March 5, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian DiseaseHernan D Gonorazky, Sergey Naumenko, Arun K Ramani, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
American Journal of Human Genetics|May 1, 1988
Search for mutations altering protein charge and/or function in children of atomic bomb survivors: final reportJ V Neel, C Satoh, K Goriki, et al.
American Journal of Human Genetics|April 1, 1988
Genetic polymorphism of human serum ribonuclease I (RNase I)T Yasuda, W Sato, K Mizuta, et al.
American Journal of Human Genetics|February 18, 2021
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel diseaseHari K Somineni, Sini Nagpal, Suresh Venkateswaran, et al.
American Journal of Human Genetics|February 20, 2021
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significanceMarcy E Richardson, Chunling Hu, Kun Y Lee, et al.
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